Join us for episode #99 of Forensics Talks on March 14 at 2 PM Eastern, as we delve into the forefront of forensic biology with Dr. Nicole Novroski from the University of Toronto, Mississauga. Dr. Novroski, specializes in leveraging massively parallel sequencing (MPS) alongside innovative approaches for forensic human identity testing. This episode will explore her work on unearthing previously uncharacterized genetic markers for enhanced DNA mixture de-convolution and her research in identifying distant relatives through benchtop-scale sequencing. Dr. Novroski's current endeavors also include the exploration of computational biology for forensic genetic data analysis, microbial forensics, and advanced DNA methodologies for missing persons and unidentified human remains investigations. Tune in as we uncover the intricacies of DNA sequencing and its profound implications for forensic science, public safety, and beyond!
Originally aired on: Mar 14, 2024
Join us for episode #99 of Forensics Talks on March 14 at 2 PM Eastern, as we delve into the forefront of forensic biology with Dr. Nicole Novroski from the University of Toronto, Mississauga. Dr. Novroski, specializes in leveraging massively parallel sequencing (MPS) alongside innovative approaches for forensic human identity testing. This episode will explore her work on unearthing previously uncharacterized genetic markers for enhanced DNA mixture de-convolution and her research in identifying distant relatives through benchtop-scale sequencing. Dr. Novroski's current endeavors also include the exploration of computational biology for forensic genetic data analysis, microbial forensics, and advanced DNA methodologies for missing persons and unidentified human remains investigations. Tune in as we uncover the intricacies of DNA sequencing and its profound implications for forensic science, public safety, and beyond!
Originally aired on: Mar 14, 2024
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Speaker
Hey, everybody, it's Eugene here. And welcome to Forensics Talks. This is episode 99. It's the Wayne Gretzky edition. So, if you're not from Canada and you haven't listened to hockey or you're not a hockey fan, you might know what I'm talking about. But,
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Speaker
yeah, we're getting close to the 100th episode here. And,
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today my guest is Nicole Novroski
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We're going to be talking about forensic biology and DNA, and that's a subject I'm not,
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the best at, but I'm going to do my best to, you know, ask some hard questions and see what we can get,
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in terms of information and kinds of things she's working on.
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other than that, I know it's been a busy time. I haven't
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done a,
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a session for a few weeks now, and it's just because I don't know about everyone else, but it's just been,
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pedal to the metal for,
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a lot of people recently. So, it's been really, really busy. And,
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it's probably going to be like this a little bit scattered on the forensics talks thing,
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coming up.
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So,
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yeah. Well, we're just going to do our best to get as many of these, squeezed in as possible. And,
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Speaker
since the next episode is the 100th episode,
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if any of you have any ideas about what to do or what to cover, I'm open because I've been thinking about this one. And I don't know if you celebrate 100 episodes or not or what it is you do, but,
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maybe it's just a regular episode, but,
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yeah, I just want to thank everybody.
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I know that there's some regulars that keep,
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I have been watching from,
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a long time ago now, and,
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Yeah, just grateful I can do these and meet some great people and learn a lot about, forensics in general.
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Speaker
Okay. Well,
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Speaker
my guest today is Doctor Nicole Novroski. She's from the University of Toronto, Mississauga, and she specializes in forensic biology and looking at things like,
00:01:57:03 - 00:02:10:00
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massively parallel sequencing alongside innovative approaches for forensic human identity testing and what we're going to be talking about today are things like genetic markers for enhanced DNA mixture deconvolution.
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And a lot of her research,
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looking at things like, forensic,
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genetic data analysis,
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she's doing work with microbial forensics,
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even,
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work with skulls and things like that with,
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you know, human bones. And so, there's a lot there to chew on, and,
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I'm gonna do my best but let me bring her on in here.
00:02:28:10 - 00:02:34:29
Speaker
Let's see. There she is. Hey, Nicole. How are you? Hi, Eugene. All right. Well, thanks for being here. I appreciate
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you are taking the time. I know you're a busy person, and,
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you got a lot going on in the lab.
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with students and everything else, so. Yeah, I appreciate it. Well, thank you so much for having me.
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let me start with,
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you and your background and such and kind of where you got started. And I always ask the kid question, which is when Nicole was, you know, playing in the, the playgrounds. And she was a lot younger than university.
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were you always into science? Like we were a science kid? Were you in a nerdy kid?
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Were you, like, the one of the cool kids?
00:03:05:16 - 00:03:16:12
Speaker
you know, who was Nicole when she was young? I was not the cool kid. My sister, however, you know, best dressed miss Popular, captain of all the teams. But,
00:03:16:12 - 00:03:32:18
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I would say that I was pretty nerdy. Not so nerdy that it was awkward. I don't want to call myself an awkward kid, but I definitely found that academics were always a very strong suit of mine, and I really strived super hard to do well in all of my courses.
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But when I was younger, I actually really wanted to be an accountant.
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I wanted to be an accountant up until 11th grade, and I wrote a paper in my 11th grade biology class about DNA fingerprinting, and I looked Jeffries, and I was like, this science, you know, the whole the really terrible series of crimes. And that was just so compelling that it totally set me off on a whole different path, which in 11th grade, you were already kind of on that path for your credits.
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And so, there was some pivoting that had to happen, but it was really wonderful. Wow. That's,
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interesting. And so,
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were there any I mean, when you switched over to the whole forensics area and everything else, was it was there somebody or something in particular that steered you that way? Was it a show? Was it's a book.
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It was. What was it? So, I really,
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value service. I am an active volunteer. I'm a member of many volunteer organizations, and I really commit a lot of my time to outreach and service to the community. And quite frankly, forensic science is that perfect balance of being able to use my intellectual abilities and my critical thinking skills and my, you know, my bench skills, my technical bench skills in order to contribute to the greater good of society, of my local community, of whomever it may be.
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In my role right now, I teach. So, I have that impact directly with the students. But I always love having the opportunity to teach somebody who doesn't know that much about forensic science or forensic genetics a little bit more, because then it will spark a new interest in them to maybe ask more questions, look at different opportunities for themselves.
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So really, just that service component has been the biggest driver for me and wanting to pursue this field. Yeah. So, and I noticed that you do
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there's a lot of online activity that you do a lot of education and,
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like lectures and just sort of, you know, simple videos that explain, you know, kind of simply like what you're doing and, you know, hopefully that will promote, you know, younger people to, like, get involved and get interested in what you're doing, too.
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So, did you do anything for like, younger kids or sometimes or so?
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I have had conversations with colleagues about developing some science communication type of
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workshops. I think right now, the last five years at the University of Toronto have been so hectic that I've really been focused on developing my undergraduate program and moving into graduate,
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student teaching.
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And so now that things have lightened up a little bit for me from the curriculum development side, I think there's now a bigger opportunity to start to consider elementary school or high school. And interestingly that you asked that in my,
00:06:21:25 - 00:06:34:26
Speaker
current friends in forensic biology class this year, I actually had my students do oral presentations where they had to communicate a topic of their choice at the undergraduate level, at the high school level, at the elementary level, and then to a layperson.
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And I found that exercise so exciting and so interesting with everybody's different approaches that again, I'm really starting to think about outside of the undergraduate curriculum. So, I'm stealing some ideas from that class for sure. But yeah.
00:06:51:11 - 00:06:53:06
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nice. So, tell me about,
00:06:53:06 - 00:06:54:14
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the transition for you,
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between university and then postgraduate studies.
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you I'm assuming that it was forensic biology, mostly what you were focused on, like in university.
00:07:04:14 - 00:07:05:13
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And then,
00:07:05:13 - 00:07:27:22
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did you know right off the bat like, hey, I'm going to be furthering my studies, I've got to go for a master's, a PhD, or what was that transition like? So, if we're being completely honest, it was a little bit of a wild ride. I completed my undergraduate degree at the University of Toronto Mississauga. I did a double major in forensic science and biology, and I was a B student.
00:07:27:29 - 00:07:30:17
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I was really involved. I did a lot of,
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extracurriculars, and I was,
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Speaker
you know, a resident on for many years. But I just wasn't at the top of my class here at Utmb, where I'm now an instructor. But I left Utmb, and I was like, I'm very passionate about this field. Let's just see where the journey takes me.
00:07:47:06 - 00:08:02:23
Speaker
And I ended up moving out west to Alberta with some friends, and somehow, I found my way working at an RCMP detachment. And the job there was not science based, it was administrative. But watching the,
00:08:02:23 - 00:08:12:21
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all of the officers get dispatched to calls and they knew that I was very passionate about forensics, so they would take me to scenes when it was suitable.
00:08:12:23 - 00:08:23:27
Speaker
And at that point I was just like, I can't stay here. I really love working with the police, but I have to go back and do more. This this is not my journey. So, I applied to,
00:08:23:27 - 00:08:35:08
Speaker
the master's program at the University of Albany. Pardon me, the University at Albany, Suny and I moved to Albany, New York and did the master's in forensic molecular biology program.
00:08:35:08 - 00:08:37:13
Speaker
I fast tracked that,
00:08:37:13 - 00:09:07:18
Speaker
and through that master's degree, I had the opportunity to intern in Minnesota. So, I went to the Minnesota Bureau of Criminal Apprehension and again, made a ton of connections, really started building my passion for the field that segue into a position with the New York City Office of Chief Medical Examiner. Once I graduated from my master's degree, and I was simultaneously admitted to the PhD program, but I tabled the PhD so that I could get that real life work experience.
00:09:07:20 - 00:09:34:04
Speaker
But in that real life work experience and working overtime almost every weekend, I was still wanting to do more push the envelope. Keith. Work obviously is very rigorous, but it's very by the book. You follow the protocol, no deviations. And I still had a lot of drive in me to ask other questions and test other philosophies and expand on the chemistries that I was learning.
00:09:34:04 - 00:09:49:12
Speaker
So, at that point, I thought it was the perfect shift. I went to the University of North Texas Health Science Center under Doctor Bruce Lee, and just had an amazing five years. And my doctoral degree published a lot, learned
00:09:49:12 - 00:10:00:16
Speaker
a ton, and really just, I guess, fast tracked my career at a really prolific rate, just given all of the opportunities that Doctor Butler was able to provide for me.
00:10:00:19 - 00:10:11:09
Speaker
And then right after my doctoral degree, I landed my tenure track assistant professor position at the University of Toronto. And I've gone full circle. Just was,
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Speaker
recommended for tenure. So, it's been just an incredible journey. Like I said, a wild ride, a lot of moving around, but,
00:10:18:02 - 00:10:23:16
Speaker
very, very grateful for every one of those incredibly impactful opportunities.
00:10:23:19 - 00:10:42:20
Speaker
Yeah. That's fantastic. And you bet you raise up some really great points to like about the fact that, you know, in the if you're working in you're practicing in certain fields, like whether it's with a police or a lab or whatever, you don't always get time to do the research and the experimentation. In fact, it's usually a side thing because, you know, it's a case where case where case work.
00:10:42:22 - 00:11:01:04
Speaker
And, you know, I know a lot of labs now are just under a lot of pressure right now to get stuff out the door. So, they don't have that time to play. And so, working on your PhD, you know, it's that playground of, you know, heat testing, testing and doing all this stuff. And I have to say, like, I mean, looking at a lot of the stuff that you're doing, you've I mean, you put out a lot of work, which is great.
00:11:01:04 - 00:11:06:13
Speaker
Like you're really active and you can tell you like you're really passionate about the work you're doing. So, I think that that's really great.
00:11:06:13 - 00:11:08:13
Speaker
sorry. What year did you. So, what year did you,
00:11:08:13 - 00:11:16:03
Speaker
graduate University. So, I finished at UTM in 2009. I finished my master's in 2011. Then I went to work.
00:11:16:03 - 00:11:21:29
Speaker
I started the doctoral program in 2013 through 2018, and I've been at Utmb ever since 2018.
00:11:22:05 - 00:11:30:16
Speaker
Okay. So let me ask you, I mean, since we're talking about, you know, university and schools and stuff like that, you know, for the students that are going to be watching this at some point.
00:11:30:16 - 00:11:33:26
Speaker
what kinds of things do you think,
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are important for students today?
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if they want to pursue a career in forensic biology to have under their belts, what kinds of things are going to make the difference for them?
00:11:43:14 - 00:11:51:29
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you know, versus everybody else that's out there. So, I really think making the most of that undergraduate experience in terms of labs
00:11:51:29 - 00:12:09:12
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volunteering in the PiS lab, a research lab like my own, I usually take anywhere from 6 to 12 volunteers a year just because I have so much interest. But it really does provide that additional practical opportunity for a lot of individuals who may not get it otherwise.
00:12:09:14 - 00:12:27:19
Speaker
I also think just really trying to take advantage of the volunteer opportunities. So, working with organizations that allow you to gain additional perspective, we have major problems like human trafficking, but there's a lot of DNA involved in
00:12:27:19 - 00:12:37:00
Speaker
these human trafficking programs. Right? So just as an example of one area that could be pursued, but tons of volunteer opportunities to learn more about
00:12:37:00 - 00:12:43:28
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a compelling field like that, that's very problematic on a global scale and just making connections with investigators and,
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other crisis management.
00:12:46:04 - 00:13:21:06
Speaker
I really think that the more connections you make, you never know when you might need a friend. And having a big network will never do you wrong. And being kind also is just the best way to move in that direction. So I when students come to me and they want a placement and they're kind and they're excited, the door is open and I will find something for them to do and try and meet them where their technical skills are or where their research skills are, just to give them that opportunity.
00:13:21:06 - 00:13:46:18
Speaker
Because the world is a very competitive place. And if you're not being proactive and you're not taking a little bit of risk, you know, asking, is there room for me or can I, you know, venture to this state or this province for a summer internship? If you're not taking those leads, you might be passed by for bigger and better opportunities just because you're not bringing that competitive element to the position.
00:13:46:21 - 00:13:47:11
Speaker
Yeah.
00:13:47:11 - 00:13:52:15
Speaker
let me ask you. I mean, we're talking to research two now. So let me let me ask you about some of the,
00:13:52:15 - 00:14:00:09
Speaker
work that you've been doing over the past years. And it's funny because when I always look, sometimes it's sort of your compendium of research and you can see that there is a transition.
00:14:00:09 - 00:14:06:25
Speaker
There's just sort of a, a path, and you've kind of moved into a few different areas. But let me ask you, I mean, how would you describe the,
00:14:06:25 - 00:14:20:11
Speaker
the direction that your early research has taken onto what you're doing today? So, what's really interesting is that I'm still working on a couple of things that I've been working on now for almost a decade, being the DNA mixtures.
00:14:20:13 - 00:14:25:18
Speaker
my doctoral degree focused heavily on DNA mixture deconvolution. And,
00:14:25:18 - 00:14:43:08
Speaker
very gratefully, I was awarded a National Institute of Justice grant with co-principal investigator Mike Coble out of UNT, to pursue that work even further for 2024 2025. So not letting that ship sail off yet,
00:14:43:08 - 00:15:02:07
Speaker
going to keep working in that area. But I would say some of the other things that I've transitioned away from are the pharmacogenetics studies that I did years ago, but we still talk about that in my lectures, and we still have conversations about what that looks like in terms of practice.
00:15:02:10 - 00:15:25:09
Speaker
Transfer and persistence are a really big area of interest. It was one of my first publications back in 2011 when I interned in Minnesota, and now as a Pi. I have a handful of students who are working on transfer and persistence projects. One's actually in collaboration with the Center of Forensic Sciences. And then another one was awarded the Forensic Sciences Foundation, Lucas Grant.
00:15:25:12 - 00:15:52:11
Speaker
and so, there's a lot of interest there, obviously, from the community to investigate transfer and persistence. But it's looking different and definitely more sensitive, and math based these days than it did back in 2011. And then I just have a ton of smaller projects going on. So, we have students interested in microbial forensics. We have students that are looking at population data for Canada's populations.
00:15:52:11 - 00:16:02:03
Speaker
We don't have a lot of forensic allele frequency data that's updated in the last several years. And so, I have a team of researchers who are pursuing that. And then
00:16:02:03 - 00:16:15:20
Speaker
also excitedly, I was awarded a second National Institute of Justice grant this year, again with collaboration with UNT and also Sam Houston State University. And that's in forensic genetic genealogy.
00:16:15:20 - 00:16:30:01
Speaker
So, moving into a new area, which is really exciting and obviously very heavily promoted in the media right now with all of these incredible DNA solved. So, trying to stay current, always trying to push that envelope and,
00:16:30:01 - 00:16:35:19
Speaker
learn more and do more and be able to contribute to the field in a very impactful way. Yeah.
00:16:35:19 - 00:16:41:05
Speaker
I want to ask you about some of the core stuff you're doing, but let me ask you about a few others that I had seen, and maybe I'll start in,
00:16:41:05 - 00:16:42:24
Speaker
start with the first one.
00:16:42:24 - 00:16:43:16
Speaker
I was looking at,
00:16:43:16 - 00:16:56:06
Speaker
direct PCR amplification of DNA from human blood stain, saliva and touch samples collected with the micro flow Q so it is micro fecal swabs. What was that one about? So, the micro flock,
00:16:56:06 - 00:16:58:19
Speaker
micro flock. No. No problem. I mean,
00:16:58:19 - 00:17:09:12
Speaker
it's a tricky one. The Viral Flux lab is a very cool nylon swab that's ideal for, like you said, touch samples, but also for sampling from a larger substrate.
00:17:09:12 - 00:17:11:14
Speaker
If you want to get a quick answer,
00:17:11:14 - 00:17:30:28
Speaker
it's like a speck. If you were to pull the swab out. And I should have brought one as a demo, but it's just like a speck of nylon fibers that when it makes contact with the biological material, it does undergo some cell lysis, meaning that the cells open up and the DNA is more freely accessible.
00:17:31:01 - 00:17:51:15
Speaker
And then it goes directly into an amplification reaction. So instead of, doing a DNA extraction, which would separate the DNA from all of the other debris and materials, if you're going straight into the amplification reaction to see if you can get a DNA profile. And interestingly, I'm still using the micro frog in other,
00:17:51:15 - 00:17:54:19
Speaker
research and development projects currently.
00:17:54:19 - 00:18:11:21
Speaker
So, we've evolved from blood, semen, saliva, the common substrates. So now I'm looking at vasectomies versus non vasectomies. Male DNA recovery using these types of samples to see if we can still get, you know, sufficient DNA from a vasectomies individual in the absence of sperm.
00:18:11:21 - 00:18:18:00
Speaker
and then also on gun cartridge casings. Oh okay. Oh wow. Okay. It's pretty.
00:18:18:00 - 00:18:26:15
Speaker
So, lots of different things that we're exploring with regard to the touch and the direct amp.
00:18:26:15 - 00:18:33:28
Speaker
it does really just skip a step for, for those people who are not so familiar with the DNA workflow, what about the,
00:18:33:28 - 00:18:41:01
Speaker
there was another one you had here that says a forensic genetic approaches for the identification of human skeletal remains, that that one in particular.
00:18:41:01 - 00:18:44:20
Speaker
What did you do there? So that was actually a book.
00:18:44:20 - 00:18:56:14
Speaker
I contributed a couple of chapters to that book focusing in on single nucleotide polymorphisms, also known as snip. They're really popular right now because of genetic genealogy.
00:18:56:14 - 00:19:05:04
Speaker
but my discussion was talking about how snips can be utilized for a variety of forensic applications. Those include traditional human identity.
00:19:05:06 - 00:19:10:01
Speaker
Those also include ancestry. So being able to take a DNA sample and determine somebody's,
00:19:10:01 - 00:19:20:15
Speaker
ancestral background looking at phenotype. So, your hair color, eye color, skin pigmentation, inferring a potential picture of a person very,
00:19:20:15 - 00:19:30:08
Speaker
with modest confidence. We don't want to over stipulate exactly what you look like or what I look like from that data, but it does give inference as to what somebody may look like.
00:19:30:11 - 00:19:36:21
Speaker
and then lineage markers and those kinship markers that I've already talked about. And so, my focus
00:19:36:21 - 00:20:12:28
Speaker
to contribute to that piece of work was to just really explain how snips can be used. And I also wrote another chapter on the technologies so massively parallel sequencing, that's a newer technology that forensic labs are starting to adopt. I believe Kern County out of California, was the first lab to have it introduced into court for an active case, and that was really, really wonderful work that was done out of that lab where massively parallel sequencing really just gives you a lot more bang for your buck in terms of a DNA sample.
00:20:13:03 - 00:20:19:05
Speaker
So instead of processing your sample with our current methods, so amplification and then generating,
00:20:19:05 - 00:20:36:06
Speaker
a DNA profile with capillary electrophoresis, we get a lot of information about the quantity and quality of a DNA sample. And so that's a really cool technology that's been around. And I have a lot of experience with now for about a decade, but finally is gaining some true traction in the forensic arena.
00:20:36:09 - 00:20:38:11
Speaker
Okay. Do you recall the name of the book off hand?
00:20:38:11 - 00:20:40:03
Speaker
Shannon is asking you here about,
00:20:40:03 - 00:20:43:28
Speaker
the one that you could mitted a chapter to. That's the name what you said,
00:20:43:28 - 00:20:46:26
Speaker
or that was the name of the book. Yeah, yeah. Okay. So that's,
00:20:46:26 - 00:20:48:22
Speaker
Here, let me just bring it up here. So it was,
00:20:48:22 - 00:20:56:15
Speaker
well, there was forensic genetic approaches for the identification of human skeletal remains, challenges, best practices and emerging technologies.
00:20:56:15 - 00:20:58:17
Speaker
So that's what it's called. Chin. Okay.
00:20:58:17 - 00:21:04:03
Speaker
so, Nicole, in the field of, like, forensic biology, like DNA and all that,
00:21:04:03 - 00:21:15:24
Speaker
how would you classify the, the subdisciplines or some of the major areas or that people focus on? And I think you've mentioned some of them or whatever, but maybe just so I can get a bigger picture of what they are.
00:21:15:24 - 00:21:37:15
Speaker
So like phenotype being you talked about in genealogy but like what are all the disciplines and are there any new ones, are there any emerging ones as well? It's a really interesting question, and I think it's important to first think about the fact that traditional forensic casework is going to follow a very standard and consistent workflow where the evidence comes in from the investigators.
00:21:37:17 - 00:21:53:11
Speaker
You extract the DNA; you determine how much DNA is there. You amplify our core Codis markers, those markers that everybody around the world is in, in some form or fashion, trying to capture. And then we generate the DNA profile that's ideal for court.
00:21:53:11 - 00:22:05:19
Speaker
and separate from that, we do have those different areas. So, we have ancestry and phenotype exploration, but those are typically used as investigative leads much like forensic genetic genealogy.
00:22:05:21 - 00:22:23:02
Speaker
So forensic genetic genealogy to my knowledge current time and day right now has only been validated into public forensic labs, both in the United States, one of them being Unty, who I'm fortunate enough to collaborate with so frequently. But,
00:22:23:02 - 00:22:34:12
Speaker
forensic genetic genealogy from an investigator standpoint is heavily used and it's often outsourced to private labs to generate that DNA profile that then gets built into those family trees.
00:22:34:12 - 00:22:37:03
Speaker
And then the investigation continues from
00:22:37:03 - 00:22:39:14
Speaker
the police agency,
00:22:39:14 - 00:23:03:00
Speaker
using the leads that they've developed for a person of interest from that information. And then we also have things like rapid DNA typing. So rapid DNA typing has different roles in different jurisdictions. I know in Canada it could always have a really big humanitarian approach if we had a mass disaster of sorts, because it's really good for single source samples or samples that come from one person.
00:23:03:07 - 00:23:39:13
Speaker
You can do a quick identification, but I think pure regional police is also investigating the use of rapid DNA for some of their crime scene samples, or maybe those high-volume samples. So rapid DNA really is this single machine that sample and DNA profile out in about 90 or so minutes. It does allow for an expedited turnaround time, I guess, on those DNA profiles and massively parallel sequencing, which is definitely my bread and butter, is something that you can utilize for a variety of applications.
00:23:39:13 - 00:23:41:09
Speaker
So, like I said, like ancestry, snip,
00:23:41:09 - 00:23:47:18
Speaker
phenotype. We can do some genealogy work on that. We can do traditional identity marker capture.
00:23:47:18 - 00:24:04:27
Speaker
it can do whole genome sequencing. All of these different things can be done. And that's a technology that still is being considered by a lot of labs, still is never going to enter a lot of labs just based on cost but has the potential to really contribute in a big way.
00:24:04:29 - 00:24:25:07
Speaker
and sort of that I feel like we're going to see other branches develop. So, our techniques in terms of looking at methylation are drastically increasing, and methylation is being used for age prediction, but it's also being used for body fluid identification and things of that nature. I'm very less familiar with,
00:24:25:07 - 00:24:30:16
Speaker
DNA methylation. I haven't done a lot of work there, but proteomics, all kinds of things.
00:24:30:19 - 00:24:57:08
Speaker
I would expect that over the next 5 to 10 years, we start seeing bigger branches of differentiation within forensic genetics. And that will be a really cool thing to see. And I think our DNA conferences will evolve to respond to that. Much like the Academy meeting has all of the disciplines I could see our forensic genetics meetings having multiple like subdisciplines that allow people to cluster within the pool that they're doing the work.
00:24:57:08 - 00:24:58:00
Speaker
And,
00:24:58:00 - 00:25:12:12
Speaker
we're not there yet. Everything is still always on the table at our meetings. But it is a really, really exciting time in forensic genetics because we have so many different avenues that are transitioning into the limelight. Yeah. Let me ask you about,
00:25:12:12 - 00:25:21:13
Speaker
oh, said you have me jumping through a few different things here, but one of them was having to do with statistics and a lot of the math that's behind,
00:25:21:13 - 00:25:26:22
Speaker
you know, a lot of what you can say about identification or mixed samples and stuff like that.
00:25:26:22 - 00:25:27:14
Speaker
So,
00:25:27:14 - 00:25:38:02
Speaker
who are some of the leaders or who are some of the people who come up with these things and how do they get adopted? Like how does somebody say, you know, look, this this method is better than this method or are there's different,
00:25:38:02 - 00:25:47:00
Speaker
methods used under different scenarios. So that's a really good question. I think it comes down to interest or public need.
00:25:47:02 - 00:26:05:22
Speaker
So, you're always going to have all of those grant submissions to the National Institute of Justice or whatever funding agency, on an annual basis to develop new approaches to all kinds of different things. So, whether it's working with very fragile samples like skeletal remains or hair,
00:26:05:22 - 00:26:07:12
Speaker
and low template,
00:26:07:12 - 00:26:20:10
Speaker
DNA types of samples, whether they want, whether our group wants to explore, like I said, methylation or proteomics or go in these radically new directions, whether they're focusing on mitochondria, real DNA, whatever it may be.
00:26:20:13 - 00:26:46:20
Speaker
And I think what happens is it's a very small community. So, we all go to the same meetings, we all see what everybody is doing, and then it's a need-based response. So, if the FBI or the National Institute of Standards and Technology starts taking a look at your work, that's when you know that, oh, this might be of big interest to the national community or the international community.
00:26:46:23 - 00:26:56:14
Speaker
The same can be said in Canada. So forensic genetic genealogy or investigative genetic genealogy is definitely a hot topic. And we're hearing about,
00:26:56:14 - 00:27:12:02
Speaker
we're having these conversations at the government level or between labs and investigators and other, you know, political officials or privacy commissioner, whomever it may be. We're having these conversations because it's become,
00:27:12:02 - 00:27:18:09
Speaker
a point of public interest, but also a need to serve society in that way.
00:27:18:09 - 00:27:43:13
Speaker
And so that's why I think you see things like genetic genealogy really taking off, because the there's that immediate public benefit. But things like phenotyping have kind of taken a back burner. It had a quick moment there in the sun and then now it's still an investigative tool that we can utilize, but it's not so much on the forefront or not the focus as frequently at meetings.
00:27:43:16 - 00:27:59:12
Speaker
And I think it's always just really in response to what the needs are. So, there is always that flux. I think projects ebb and flow like my DNA mixtures. For a minute there, I was like, I guess we’re done here and but now we're back at it. So,
00:27:59:12 - 00:28:10:14
Speaker
I'm going to just, I'm going to take the grants and I'm going to do my best work and, and hope for the best that the community receives my contributions to be valuable.
00:28:10:16 - 00:28:16:17
Speaker
Okay. You I mean, you've been at this now for, you know, well over a decade and doing a lot of different work and stuff like that. So,
00:28:16:17 - 00:28:21:13
Speaker
and correct me if I'm wrong. So, the general if at a high level, you're talking about,
00:28:21:13 - 00:28:25:09
Speaker
like you collect the sample, there's the extraction, right, that you have to extract DNA.
00:28:25:09 - 00:28:26:07
Speaker
Then you have, there's,
00:28:26:07 - 00:28:31:06
Speaker
quantitation and then there is the amplification, like at those three steps,
00:28:31:06 - 00:28:37:22
Speaker
in if you were to look at each one of those steps is a big question, but how has each one of those,
00:28:37:22 - 00:28:44:01
Speaker
processes changed over the years? Have there been big improvements in the way that you can now extract the DNA?
00:28:44:01 - 00:28:47:10
Speaker
The quantitation is that have improved a lot.
00:28:47:10 - 00:28:55:01
Speaker
you know, so what can you tell me about those three areas? So, I'm going to say that everything is improved. And I see a question in the chat about,
00:28:55:01 - 00:29:11:02
Speaker
sensitivity and sensitivity actually, I think is the big driver to the improvement of what we're seeing. So, if you go back to 1985, when DNA fingerprinting first came online, we needed a ton of a biological material.
00:29:11:02 - 00:29:32:13
Speaker
So, we're talking about like a full quarter size or more stain in terms of being able to generate enough information. And it took a really long time, and then it wasn't as informative. So, it would narrow it down to one in X number of people, but it would still leave a lot of people who could be considered in terms of the DNA profile.
00:29:32:15 - 00:29:43:12
Speaker
Now, as we fast forward, we've now we're now targeting much smaller markers and we're now targeting more markers. So, we've seen the evolution with,
00:29:43:12 - 00:29:46:20
Speaker
Codis. So, the FBI's national,
00:29:46:20 - 00:30:06:06
Speaker
DNA database, we've moved from a few markers to then 13 markers was the gold standard for a really long time, and now we're up to 20 that increase in the number of markers and that comes in at the amplification step, is very impactful and greatly increases the power of discrimination when
00:30:06:06 - 00:30:19:02
Speaker
making an identity determination as to who may or may not have contributed to a DNA sample, but taking a step back and thinking about DNA extraction and our extraction techniques are incredibly specific now.
00:30:19:09 - 00:30:45:06
Speaker
So, we have very, very tailored techniques for if you were to do a cartridge casing or if you were to process bone, or if you're looking at rootless hair shafts, all of these things that, you know, 20 or 30 years ago would be impossibilities for acquiring DNA. From that, we can now, if not get a full profile, we can get some DNA information from those types of substrates.
00:30:45:08 - 00:30:59:00
Speaker
And that leads into quantification. So, determining how much DNA is there, some of the assays go right down to less than a cell of DNA. Incredibly, incredibly sensitive. And so, to that point,
00:30:59:00 - 00:31:10:16
Speaker
in the chat of that increased sensitivity, context is always incredibly important. And we've seen that movement about transfer and persistence of DNA in the courtroom.
00:31:10:20 - 00:31:33:13
Speaker
So, we don't question necessarily that there is DNA there, but how did it get there? Who put it there? What are the various scenarios for the DNA to have gotten there? And that's a far more complicated question because it introduces so many variables. And then it also allows for people to argue various scenarios as to why their DNA was there, but why they still didn't do it.
00:31:33:15 - 00:31:53:09
Speaker
And I don't have all of the answers for that. I will say that I am working in that area, and we have done several different types of experiments, but transfer and persistence and activity level propositions about DNA deposition is still an ever evolving and a very complicated,
00:31:53:09 - 00:32:00:25
Speaker
area. And I, I don't think we'll ever go back. I think that we're only going to become more and more sensitive.
00:32:00:25 - 00:32:02:02
Speaker
I think our.
00:32:02:02 - 00:32:22:07
Speaker
The expansion of how much DNA information can be collected from a single sample will continue to grow, and that's also a tricky thing. So, ethics around how much information we should have on a particular sample. And when we start getting into that public health information. And I know that it's been a hot topic in genetics genealogy.
00:32:22:09 - 00:32:49:14
Speaker
but I think that with proper legislation and also using just a best practices approach for forensic DNA typing, right. The forensic scientist, ideally or in my mind, is there to best represent the evidence to help society. We're not there to suggest innocence or guilt. It's not our job to have any opinion necessarily about the alleged person of interest or the suspect, but to best represent that evidence.
00:32:49:14 - 00:33:08:17
Speaker
And so as long as we're doing that in a best practices approach, I think that our increased sensitivity are better techniques can only serve us to serve society. So let me ask you about phenotyping for a second. You brought that up a little bit, before,
00:33:08:17 - 00:33:15:12
Speaker
where are we today on phenotyping is it's still in its very early stages.
00:33:15:12 - 00:33:17:18
Speaker
Is there still a lot of room to grow there?
00:33:17:18 - 00:33:23:11
Speaker
what kinds of things can we get out? And I'm, you know, in my head, I'm thinking about even people that are doing like, the,
00:33:23:11 - 00:33:33:01
Speaker
the, the reconstructions, you know, they're doing full reconstructions, and they see all online all the time people doing a, you know, we did some phenotyping and, you know, here's what this person looked like, you know, back then or whatever.
00:33:33:01 - 00:33:38:15
Speaker
So, and I always question some of that. I think some of it is a little bit of wow factor stuff or whatever. But
00:33:38:15 - 00:33:52:15
Speaker
yeah. Where are we in terms of phenotyping? How well can we perform? So, there are several different panels and when I say panels, I just mean like a mixture of genetic targets that we're looking at.
00:33:52:17 - 00:34:02:02
Speaker
there are a variety of different panels out there for externally visible characteristics. So, you can have a panel that focuses on hair color alone, on eye color, on
00:34:02:02 - 00:34:17:01
Speaker
pigmentation. Like I said, we're moving into like age prediction and things of that nature. The problem or the biggest limitation, because there are a lot of known regions in the DNA that will infer these externally,
00:34:17:01 - 00:34:18:15
Speaker
visible characteristics.
00:34:18:18 - 00:34:51:09
Speaker
But they are polygenic, meaning that multiple parts of the human genome interact in order to give rise to the phenotype or what we see expressed in an individual. And that complexity makes predictions sometimes difficult. Now, if it's blue eyes or not blue eyes, brown hair or not brown hair, those predictions can be a little bit more straightforward. But when we get into the intermediate traits so individuals who have hazel eyes and green eyes or their hair color is,
00:34:51:09 - 00:34:56:19
Speaker
that light brown auburn red sometimes can be tricky to predict.
00:34:56:22 - 00:35:26:07
Speaker
Those types of characteristics become more complicated. Genetic admixture plays a huge role there. And what I mean by that is just looking back in our ancestry, we have that exchange of genetic information from different parts of the world. Those intermediate traits that are encoded in our DNA are just hard to fully explain from a genetic perspective, to then predict what a person will look like with a high degree of accuracy.
00:35:26:10 - 00:35:48:01
Speaker
So, I think that forensic DNA phenotyping definitely can be used as an investigative lead, especially if you're trying to use it for something like a missing person's investigation. But I would never use it to narrow down a suspect pool, where you're then going to only look at a specific group of individuals based on these traits. Because it could be uninformative.
00:35:48:03 - 00:36:11:12
Speaker
For example, my forensic DNA phenotyping profile says that I have blond hair. My mom was a blond when she was young. I have always had very dark brown hair, but my genetics say that I have that blond trait and so I always put a picture up in my slides with a wig on, and all of the students laugh because, you know, it's just so unrealistic as to what I look like.
00:36:11:14 - 00:36:29:28
Speaker
However, it does reinforce that fact that we just have to treat the Speakers with as much attention as we treat the knowns, and so being mindful that there are limitations, but it can be incredibly useful, especially, like I said, in those missing persons instances. Okay, let's get into,
00:36:29:28 - 00:36:31:17
Speaker
forensic genealogy. I think that's,
00:36:31:17 - 00:36:34:27
Speaker
another topic that you, you're spending a bit of time on now these days and,
00:36:34:27 - 00:36:35:12
Speaker
yeah, even,
00:36:35:12 - 00:36:38:28
Speaker
actually, I think you published the paper in was it 20 just recently?
00:36:38:28 - 00:36:40:08
Speaker
Right. 20, 24?
00:36:40:08 - 00:36:46:04
Speaker
oh, no. Yeah. Identifying distant relatives using benchtop scale sequencing. Right. There's that one,
00:36:46:04 - 00:36:48:05
Speaker
that you just did recently. So,
00:36:48:05 - 00:37:00:27
Speaker
well, let's start with forensic genealogy. How would you describe that to somebody in that in terms of how it is different to, you know, just regular, you know, making an identification in the lab kind of thing?
00:37:01:00 - 00:37:26:17
Speaker
Sure. So, our traditional forensic DNA typing happens in those accredited forensic labs. The investigators submit their sample to the lab. The lab processes it. Part of me processes it through that workflow. So, extraction client and generating that DNA profile does the comparison. Sometimes uploads to the criminal DNA database sometimes, you know has concordance with the person of interest.
00:37:26:17 - 00:37:48:03
Speaker
It goes to court. And then there we there we go. The outcome will be the outcome in the courtroom. Now, what happens when you don't have somebody to compare to or you upload to the criminal DNA database and there's nothing like there are no concordant profiles. The case will eventually start to lose steam. There are no more new leads.
00:37:48:03 - 00:38:11:18
Speaker
There's no more new evidence. There's nothing really more that can be done. And so that's one. Investigators have started to turn to forensic genetic genealogy. And I would say that forensic genetic genealogy is a niche investigative tool. So, it's being used primarily right now for either active or cold cases. And I say cold cases but just historical cases, cases that are older than a few years,
00:38:11:18 - 00:38:12:18
Speaker
for violent crimes.
00:38:12:18 - 00:38:18:02
Speaker
So, things like homicide or sexual assault or, you know, very severe crimes.
00:38:18:02 - 00:38:31:16
Speaker
and or unidentified human remains, a missing person. So, there's really two big categories that we're focusing on with forensic genetic genealogy. And in the United States, the federal government has actually stipulated a bunch of conditions that,
00:38:31:16 - 00:38:37:08
Speaker
labs and investigators should be following when choosing those cases and choosing the samples.
00:38:37:11 - 00:39:05:10
Speaker
But you can look that up later. And I'll just keep talking about the science. But then when investigators are like, okay, we're going to pursue forensic genetic genealogy, that's when you have to go back to that biological evidence. So, you have to have the biological evidence still available. And sometimes in these historical cases that may or may not be possible, and then it has to be in sufficient quality and quantity to then be typed for the purposes
00:39:05:10 - 00:39:06:22
Speaker
of searching,
00:39:06:22 - 00:39:10:24
Speaker
further and how investigators are doing this right now.
00:39:10:25 - 00:39:42:26
Speaker
Oftentimes they're outsourcing to private labs who are processing that evidence and generating sufficient DNA information that's compatible for upload. Now, a traditional person. So if it was just me at home and I wanted to participate in forensic genetic genealogy, I would likely go to my direct to consumer company like 23 and me or ancestry DNA and send my saliva swab off, get the information from that private company, and then download my DNA file.
00:39:42:29 - 00:40:05:12
Speaker
Because that's what's happening from the public perspective, is that you have these direct-to-consumer sites that offer a product. People have paid for them, they send off their sample, they get the product, they get that internal private database from these companies. But then they also get a copy of their DNA data, and then they go home, and they upload that into a public database like GED match.
00:40:05:20 - 00:40:09:06
Speaker
GED match, I think is one of the biggest ones. MyHeritage,
00:40:09:06 - 00:40:40:07
Speaker
DNA, I think is another one. And we're seeing that these public databases have really grown in volume because people are interested and B, in light of forensic genetic genealogy, wants to contribute to that forensic, genetic genealogical search. What's really interesting is that when you have your own DNA data file, when you upload it into GED match, as just a private citizen or private user, you have to go through a very detailed, informed consent process.
00:40:40:09 - 00:41:00:08
Speaker
That is informed consent process allows you to acknowledge who may be using the database, and it also allows you to opt in or opt out of investigators utilizing your DNA information for those violent crime searches. Now, when it comes to the missing persons, I believe that everybody's DNA is reviewed.
00:41:00:08 - 00:41:06:26
Speaker
but for the violent crime and a lot of those DNA solves that we're seeing on TV or in the media,
00:41:06:26 - 00:41:09:02
Speaker
that is an opt in, opt out situation.
00:41:09:02 - 00:41:20:25
Speaker
And so, there is that informed consent piece from the individual who's personally uploading that sample. Investigators and forensic practitioner offer access a different form of GED match, which is,
00:41:20:25 - 00:41:24:14
Speaker
a paid service that has different tools.
00:41:24:14 - 00:41:37:14
Speaker
when the Golden State Killer case happened, they just used the regular public database. But since that time, GED match has changed ownership and it's been upgraded, and a lot of different features and tools have been added.
00:41:37:17 - 00:42:07:12
Speaker
but there is that special access for investigators, and that does allow for more of a record of continuity to be maintained for those investigative searches. And they're also only searching those samples from the private citizens standpoint who have opted in. But they search that with their crime scene DNA data file. They develop some top hits. Those hits could be a close relative to a person of interest, a distant relative to a person of interest.
00:42:07:19 - 00:42:28:19
Speaker
It's really all going to depend on who's in the database at the time of the search, and how good that DNA evidence is. So many different variables to think about when they have that hits or that match, whatever you want to call it, they have to then build out that family tree and try to understand who these individuals are that are the top ranked,
00:42:28:19 - 00:42:29:24
Speaker
matches.
00:42:29:26 - 00:42:59:07
Speaker
And that can be very, very cumbersome. Typically, investigators rely on genealogists to do a lot of that work to fill in the blanks of all of those people. People's family trees can be very small. They can be incredibly large. It looks very different in every single case and in every single scenario. And so, there's a lot of genealogical work using public records and all of that additional information that goes into to developing those trees and then exploring the person of interest.
00:42:59:10 - 00:43:22:29
Speaker
But then the investigator has to determine, does this person make sense? Were they at the wrong place at the wrong time, or are they the appropriate age? All of those things that even though you develop these people of interest, are they relevant to the investigation? And then the investigators take over again? So, then they have to do the investigative work to make those connections.
00:43:23:02 - 00:43:50:21
Speaker
If they end up determining a person of interest is likely the perpetrator, will you go right back to that traditional forensic DNA typing a sample is collected, and it's compared to the original evidence in that same DNA profile scenario. So forensic genetic genealogy is an incredible tool. But right now, we're still going full circle back to our original ways to make that identity determination or that confirmation.
00:43:50:23 - 00:43:53:09
Speaker
If you want to put it that way. And,
00:43:53:09 - 00:44:09:23
Speaker
you know, you talked about, I think I heard you say once that, you know, people have a willingness to help. And did you if I heard correctly, you said that after the Golden State Killer case, there was like an uptick in uploads or people like giving their DNA and making available.
00:44:09:25 - 00:44:15:00
Speaker
So, the golden the Golden State killer case obviously sent just a like a
00:44:15:00 - 00:44:33:27
Speaker
the butterfly effect or like that ripple effect where there was all of this panic, a lot of ethical and moral concerns and considerations. But we also saw this huge change in the DNA databases. So, a lot of people maybe didn't even know about GED match because they just use 23 and we utilize their software.
00:44:33:28 - 00:45:01:08
Speaker
We're happy with their findings, maybe learn something about themselves and called it a day. But the Golden State Killer case put GED match on the radar, and it also created an opt in opt out scenario. So, everybody was at one point kicked out of GED match and had to re opt in under the new informed consent criteria. And that was very significant because we did see an increase in the number of uploads.
00:45:01:10 - 00:45:13:24
Speaker
And I really think that comes down to people wanting to help. So innately, we are good humans, and we want to help, and we want to contribute to society. And there are a lot of,
00:45:13:24 - 00:45:26:26
Speaker
testimonials, I think, on GED match now of, oh, my sample helped catch Uncle Bob, who committed a crime 30 years ago and sorry, but don't commit crimes uncle Bob type of scenario.
00:45:26:26 - 00:45:45:25
Speaker
So, I think it really comes down to the fact that people want to do good, and this is a tool for people to contribute to society in that way. I know there's that slang term like armchair detectives, and I feel like this is where a lot of those people can really shine in terms of making their contribution to,
00:45:45:25 - 00:45:47:08
Speaker
to solving crime.
00:45:47:10 - 00:46:05:16
Speaker
And the impact of the uploads has been significant. We have seen so many cases be solved because of this. But I do want to point out something really interesting about these solves. So, our criminal databases, like our criminal DNA databases, are comprised of
00:46:05:16 - 00:46:15:20
Speaker
often convicted offenders. And then we have our crime scene samples. And the public DNA database is really we're just at the mercy of whoever puts their sample in there.
00:46:15:20 - 00:46:37:20
Speaker
And so, we're apprehending at times these one-off violent criminals. So, they committed a crime 30 years ago. And then they just went back to cutting the grass on Sunday and living their lives and never doing anything else. And they never ended up in a criminal DNA database. But then forensic genetic genealogy or investigative genetic genealogy comes along.
00:46:37:22 - 00:46:51:08
Speaker
And now we got them. And that's very, very interesting because in theory, those cases would have remained unsolved, potentially forever without this investigative technique. And so, I think there's just,
00:46:51:08 - 00:47:03:09
Speaker
a moment of reflection to be had about that significant contribution to solving those particular cases where certain individuals just would have never been apprehended. And that's very powerful to me.
00:47:03:13 - 00:47:08:08
Speaker
That's pretty amazing. I saw something in one of your papers, and I don't know if it was this one from 2024, but,
00:47:08:08 - 00:47:20:05
Speaker
how far back can you go, you know, generation wise? And what is what is the limit to how far you can go back? Like, when is this start to become? Is it just that things become so thin you just can't tell anymore?
00:47:20:08 - 00:47:25:05
Speaker
So, when we're looking at the DNA data, there are different
00:47:25:05 - 00:47:31:06
Speaker
categories of how you can look at the DNA data. So, one of the main
00:47:31:06 - 00:47:42:02
Speaker
approaches right now there's a kit called intelligence and it's manufactured by Biogen. Biogen is the parent company of Virgin. Virgin owns GED match. So, it's kind of like a little circle.
00:47:42:02 - 00:47:51:04
Speaker
but the intelligence panel looks at 10,000 snips or 10,000 of those single sites in the DNA, and that can be incredibly useful.
00:47:51:11 - 00:48:03:07
Speaker
But we start to see some drop off at that fourth degree relative. And I don't want to explain how far out that is. You'd really have to look at a family tree map to understand, like the cousins and the aunts and
00:48:03:07 - 00:48:10:12
Speaker
uncles and all of the different potential relationships that comprise those, you know, second degree, third degree, fourth degree relatives.
00:48:10:14 - 00:48:14:03
Speaker
so, we do start to see some limitations when we're only looking,
00:48:14:03 - 00:48:17:12
Speaker
in the thousands of snips. But then when you think about,
00:48:17:12 - 00:48:32:29
Speaker
some of these other technologies and I know whole genome sequencing sounds really scary, but it doesn't have to be, or these large snip arrays that are looking at 600 or 7000 snips, much the same way these direct-to-consumer companies look at, like they're gathering all of that information.
00:48:33:01 - 00:48:46:07
Speaker
And that's what you're getting in your DNA data file. So, when you start to look in those hundreds of thousands of snips, we can actually move out fifth degree, six-degree, seventh degree relatives. And again, that's really
00:48:46:07 - 00:48:54:13
Speaker
the confidence that we're going to have in our ability to make predictions within a family tree is going to depend on the quality of the DNA being compared.
00:48:54:16 - 00:49:23:03
Speaker
So, if you have a really, really poor forensic DNA sample that just doesn't have a lot of that snip information, you had a lot of failures in trying to generate those hundreds of thousands of snip targets. Then we're going to run into some problems. Now, one topic that's mentioned in the literature, and that we're hearing more and more at conferences is this term imputation, where we start to try and model or fill in the blanks with DNA data so that we can make predictions.
00:49:23:05 - 00:49:45:10
Speaker
And it definitely has value. It just has to be used in the right way. So, if we use it in the right way and we're being very conservative or stringent with our imputation, it can still allow us to develop some very significant investigative leads. Sometimes it's overused and then we go down the wrong path, and then we realize we don't have enough information to work with.
00:49:45:12 - 00:49:48:23
Speaker
And that's also something that we have to be,
00:49:48:23 - 00:50:06:26
Speaker
that we have to accept and be cognizant of that. Something like forensic genetic genealogy is an incredible tool. And my 2024 paper talks about how we can really start to utilize the chemistries we have in our forensic labs to make this happen, so that we're it's occurring in our local environment.
00:50:06:28 - 00:50:28:22
Speaker
But with that, not every sample is going to work, and we're not going to be able to solve every case with this technology. Some cases don't even have forensic evidence or biological evidence associated with them. So, there's not a lot we can do in those instances. And sometimes the DNA is just in too poor of condition to make an accurate prediction.
00:50:28:24 - 00:50:41:25
Speaker
And the last thing that we want is to be in a circumstance where there is, you know, a wrongful conviction or something of that nature. Right? We want to steer clear of anything that's going to take us into a gray area,
00:50:41:25 - 00:50:54:22
Speaker
of confidence and so, yeah, it's really wonderful. But I do think we just have to be mindful of where those limitations are in terms of the DNA information and making those connections.
00:50:54:22 - 00:51:15:13
Speaker
But if you're talking about a seventh degree relative, that's a lot of work for the genealogist. That's a huge family tree. It's probably going back, you know, great grandparent, great grandparent. Over down. How many siblings did they have in the 1900s, in the 1950s, etc.? So very, very big. Three. Oh, so yeah. So, this imputation is really fascinating.
00:51:15:13 - 00:51:17:20
Speaker
I didn't I didn't, I didn't know about that. So
00:51:17:20 - 00:51:31:12
Speaker
how do you decide how to fill in the blanks? So now I'm like, wait a second. Filling in the blanks. Like, is it because you have relatives or, you know, you have relatives or you, you know, the, the tree and you can kind of like, how does that work?
00:51:31:18 - 00:51:33:24
Speaker
It's mathematical modeling and,
00:51:33:24 - 00:51:38:14
Speaker
educated guessing based on DNA information. So, it's not based on
00:51:38:14 - 00:52:00:18
Speaker
it's not necessarily based on that person's relatives. It's based on if this person is of, say, European ancestry. And the genotype for Europeans at this particular site are these, then we can model with X number of confidence that this missing nucleotide or this missing DNA base is, is this.
00:52:00:18 - 00:52:05:21
Speaker
And so that's a very simplistic version of it. But ultimately, it's
00:52:05:21 - 00:52:21:22
Speaker
educated decision making. And it really does come down to the quality and the amount of DNA data available. You would not want to set that bar really low and just be trying to fill in the blanks everywhere, because it's going to be wrong, and you're going to end up with the wrong person of interest.
00:52:21:22 - 00:52:45:23
Speaker
And that will obviously just waste everybody's time. So yeah. Okay. So, talk to me about the most recent paper and what you're doing today in the area of forensic genealogy. So, the identifying distant relatives using benchtop scale sequencing. Why is that important. Right. So, for all of those individuals who are doing massively parallel sequencing or that next generation sequencing for their traditional markers.
00:52:45:23 - 00:53:01:17
Speaker
So, I talked about, you know, Kern County in California, bringing it online for a regular human identity. If you have one of those instruments in the lab, my team. So, working with Doctor Auguste Warner out of UNT and Doctor Sherry Hughes at, of Sam Houston,
00:53:01:17 - 00:53:07:03
Speaker
we were awarded that big and I J grant. The new grant is going to explore bringing,
00:53:07:03 - 00:53:15:16
Speaker
genetic genealogy within the forensic arena into your public forensic lab using those benchtop sequencing instruments.
00:53:15:23 - 00:53:26:25
Speaker
And what that means is doing whole genome sequencing on our benchtop sequencing instrument, which really hasn't been done in forensic science or forensic genetics thus far,
00:53:26:25 - 00:53:45:16
Speaker
for a variety of reasons. For genome sequencing, like I said, can get really complicated, especially from those ethical and public health perspectives. But if we can generate our samples in-house using this approach and generate a DNA data file that's suitable for upload into Jed match, then the forensic lab can do it all.
00:53:45:16 - 00:54:04:23
Speaker
They can get the sample from the investigator, run it through our traditional part of our traditional ways. If those traditional ways do not give you any kind of answer, then you can do genetic genealogy right on the instrument that you already have. And so that paper is kind of the,
00:54:04:23 - 00:54:08:27
Speaker
the teaser to the bigger grant and the additional work that we're going to do.
00:54:09:00 - 00:54:43:16
Speaker
But it does already demonstrate that a benchtop sequencer like the Mike or the S5 or something like that, for those who know what those instruments are, and I apologize to those who don't. But that benchtop sequencer can do so much more than you think it can, and it really will bring genetic genealogy back down to scale, so that a lab doesn't have to think about buying a high throughput instrument that's like $1 million, and then super, super expensive consumables and chemicals that are needed to run that million dollar instrument.
00:54:43:16 - 00:55:12:19
Speaker
You already have the tool. And so, it's just making use of what you already have. Because for all of us in the forensic lab, we know that money is often the limitation and obviously personnel and other resources. But if we're not spending extra money and we're not constantly reinventing the wheel and forcing labs to purchase a new instrument, we're really trying to push the envelope with the chemistry so that you can use the technology that you already have and,
00:55:12:19 - 00:55:21:22
Speaker
make this accessible to a larger volume of labs, just a greater contribution,
00:55:21:22 - 00:55:25:20
Speaker
to the community, because I don't think anybody else has tried it yet.
00:55:25:20 - 00:55:45:19
Speaker
And it was I was the one who generated the data for that paper. And I have to tell you, when I came in, then I say to see if the run had passed or failed. I was nervous and it passed, and it is informative, and we are full steam ahead. So exciting things to come for sure.
00:55:45:19 - 00:55:58:13
Speaker
yeah, I'm just really great at such a promising future in all aspects of forensic genetics, but I'm very obviously passionate about DNA mixtures and genealogy and yeah, for sure.
00:55:58:15 - 00:56:13:09
Speaker
there's a question here from Shannon gonna bring it up. How long do you think the R&D will take to get to the point where a local lab could process highly degraded samples using benchtop sequencing? So, the technology and the chemistry and the validations are already there?
00:56:13:09 - 00:56:19:27
Speaker
not necessarily from a genetic genealogy standpoint to answer that question, but from a traditional human identity standpoint.
00:56:20:00 - 00:56:26:17
Speaker
there are several publications, and I'd be happy to for them to Eugene to minute how he needs to,
00:56:26:17 - 00:56:35:28
Speaker
but something like the forensic panel or the Maine State panel or even some of those whole genome mitochondrial DNA panels could process,
00:56:35:28 - 00:56:45:08
Speaker
highly degraded samples with high efficiency and generate very good DNA profiles even when the samples are in poor quality.
00:56:45:08 - 00:57:10:04
Speaker
Poor quantity. we've had samples that didn't quantify meaning that they didn't. There was no detectable DNA when we checked, but then we were able to get almost a full DNA profile using the benchtop sequencing. So, the benchtop sequencing really does allow us to make the most out of our DNA sample. And it does have quite good sensitivity, even when we don't know how much DNA where we're even working with.
00:57:10:07 - 00:57:11:04
Speaker
Okay,
00:57:11:04 - 00:57:13:07
Speaker
let's squeeze in the, the mixed, the mixed,
00:57:13:07 - 00:57:37:21
Speaker
profiles, you know, you're talking about. It's the, the other area that you're, you're, you're interested in. So, what are you working on there? So, we currently rely on those core Codis markers that are dictated by the Federal Bureau of Investigation. So, everything goes through, you know, that policy at the federal level, it trickles down, eventually makes itself into the smaller labs and then out into the international communities.
00:57:37:23 - 00:58:04:26
Speaker
Now, what I'm doing and what is an extension of my doctoral work, is looking at different areas in the human genome areas in the human genome, where there's enough variability between individuals that you can better tell them apart when their DNA is mixed. So, what happens sometimes in a DNA mixture, especially if you have relatives in a DNA mixture, you can't always tell who is and who contributed what DNA to that DNA mixture.
00:58:04:29 - 00:58:33:19
Speaker
But if we pick additional regions in the DNA that are more variable, so they have just like a higher frequency of diversity, then we can utilize those to support who contributed how much of their DNA to a DNA mixture. And so that's really the focus of the project is to look at additional regions in the human genome that can better tell people apart when you mix their DNA together.
00:58:33:22 - 00:59:00:24
Speaker
And why that's important is because coupled with something like benchtop sequencing, that gives us a lot of quantitative information, it can be really hard when you have multiple contributors. So, there was a homicide. Maybe two people touched the, you know, the weapon and then you have other DNA that was collected that may or may not be relevant. Well, the ratios of those component contributors become really, really important.
00:59:00:26 - 00:59:42:00
Speaker
And this technology, coupled with looking at those additional regions in the DNA, can be so much more informative that we're not having to only rely on our statistics because complex DNA mixtures right now in the forensic lab are treated with probabilistic genotyping. There are different software tools out there, and all that means is we use this very sophisticated software that models all possible combinations of the mixtures and gives us a confidence as to which one makes the most sense, and then gives us a stat or a likelihood ratio that we can report out on, on why, how much more probable this scenario is over another.
00:59:42:06 - 01:00:08:11
Speaker
But if we can do better at the biological level, like if we can gain more information right from the DNA, then we're less reliant on those complex statistics and that mathematical modeling, we are just trying to make it easier right at the beginning, so that it doesn't have to get more complicated, because when you're trying to explain a likelihood ratio to the jury or anybody in the courtroom, people get confused.
01:00:08:11 - 01:00:24:15
Speaker
People misstate the propositions of the likelihood ratio. Things get really, really messy very, very quickly. And so, all about just making things simpler, which is very complicated in the background. But the goal is to make it simpler for the end user.
01:00:24:15 - 01:00:37:11
Speaker
that's a so if I understand correctly, it's really about, you know, looking outside of what's traditionally being looked at these other areas or markers that have this higher variability because, you know, they can tell you a lot more about that particular individual.
01:00:37:13 - 01:00:56:22
Speaker
or maybe, you know, maybe you can identify a person based on those other areas. So, people are not looking there because of why. It's just this is the way we do it, the kind of thing. Or it's like it's, well, we have a well-oiled machine. If it's not broken, don't fix it. And our stats are good, our stats are good.
01:00:56:22 - 01:01:25:20
Speaker
But what's happened and I think this goes back again to that one. Mike. Maybe Mike's question about that increased sensitivity is that we're now being able to pick-up low-level DNA profiles that had nothing to do with the crime at hand, and we rely upon that mathematical modeling to make sense of those data. And so, again, just having more insight into who's DNA is there and why it might be there,
01:01:25:20 - 01:01:28:11
Speaker
is this point like knowledge is power.
01:01:28:11 - 01:01:52:15
Speaker
And so, this is just meant to provide additional information, provide additional education about the DNA sample. And, you know, a couple of markers, maybe they'll make it in 5 or 10 years. You'll see them added. Maybe they won't, but we'll have it as an investigative tool, much the way we have phenotyping and ancestry and genealogy. So, there's always that application where it might be a one-off use for,
01:01:52:15 - 01:01:54:10
Speaker
you know, a case study.
01:01:54:13 - 01:02:14:28
Speaker
I don't know, I can't say. I mean, five years ago, I never thought we'd be here with genealogy and look at us now. So, yeah, I'm really open to wherever the journey takes me and wherever the journey takes the field. And just constantly adapting my approach and my mentality to be able to contribute as best as I can.
01:02:15:00 - 01:02:30:29
Speaker
You brought up a really good point, actually, and it's something that's come up. I remember talking about this years ago, and I'm not sure if it's changed at all, but it has to do with the complexity of communication of DNA results to like a judge or a jury or someone that's maybe not technical. And so,
01:02:30:29 - 01:02:34:00
Speaker
are there ways or has anyone thought about any ways?
01:02:34:00 - 01:02:51:05
Speaker
I mean, you know, you see the graphs and, you know, with the spikes and stuff like that or whatever. And I'm just wondering if there's a way of communicating that differently, or is it just is it just a comparison, like typically you would line up the graphs and you show it, but have you seen any other ways or
01:02:51:05 - 01:02:56:22
Speaker
are there any techniques or any ways you communicate this to a jury that makes it easy for them to understand?
01:02:56:25 - 01:03:01:22
Speaker
I think sometimes just putting it in a table. Right. And it's a matching game. It's all about matching.
01:03:01:22 - 01:03:24:28
Speaker
does the person of interest DNA profile match at every single number to the crime scene profile? Or does the missing person's DNA profile match at every single place to the unidentified human remains? What we look for is that complete and utter concordance in order to not exclude the person with relation to whatever our question sample is.
01:03:24:28 - 01:03:55:24
Speaker
So unidentified human remains crime scene, paternity percentage, kinship, whatever it may be. And it's really about, you know, the known person being compared to the question sample. And if there is complete and utter concordance. And I think keeping it simple, like matching up the numbers, is a much more straightforward way than hearing you talk about in a lecture fairground with just, you know, the little mountains or the peaks, because that is really cumbersome and convoluted and it's not very straightforward.
01:03:55:24 - 01:04:13:08
Speaker
And you don't understand why things are one height and other things are another height, and why they're different colors. And, you know, that's all the chemistry being shown in the like that background chemistry. and when I was talking to you, you know, not during this podcast, but just about my,
01:04:13:08 - 01:04:18:05
Speaker
passion about forensic science education, I think that there's,
01:04:18:05 - 01:04:19:10
Speaker
like, a really big
01:04:19:10 - 01:04:28:01
Speaker
opportunity for the community to come together and continue to evolve our ways of communicating science to,
01:04:28:01 - 01:04:30:11
Speaker
you know, a younger audience, a lay audience.
01:04:30:14 - 01:04:31:13
Speaker
One thing,
01:04:31:13 - 01:04:57:20
Speaker
that is on YouTube, I believe my student who was a master's student in the biomedical communications program, she made a video on DNA mixture deconvolution, and we talked about how to explain what a short tandem repeat or an STR is. And I think about it, you know, you have your DNA. The human genome is a long highway, and those stars are the rest stops along the way.
01:04:57:20 - 01:05:15:19
Speaker
So, they're not you don't have to stop at them. They're not critically important for anything. They don't code for a gene. They don't lead to functionality. But if you do stop, you're going to notice that one person and the other person, those are different, right? The left side of the road and the right side of the road. They have different rest stops, a different information.
01:05:15:22 - 01:05:21:20
Speaker
And as you travel along the road, you encounter these different rest stops and you see that the difference is between,
01:05:21:20 - 01:05:26:12
Speaker
these sites and so thinking about ways to explain science like that,
01:05:26:12 - 01:05:37:11
Speaker
is always something that is in the back of my mind because I always want to make what I do relatable. I'll never forget, you know, I had a friend who was like, you know, you were talking about I don't even know what.
01:05:37:11 - 01:05:56:07
Speaker
And then this physiologist totally understood what they were talking about because it had to do with cancer or something that people were far more familiar with. And I was really humbled by that. And so, I, I always practice like, my parents aren't scientists, and I always try and make sure that they fully understand what I, what I'm talking about.
01:05:56:14 - 01:06:17:10
Speaker
They could not be more proud, but I think one of the coolest moments of my whole life came just last weekend. I was in Texas with friends, and I have this friend who, to be honest, I never thought he was listening when I talked to him about my work and we were out somewhere and I had just, you know, been recommended for tenure.
01:06:17:10 - 01:06:37:03
Speaker
And so, we were celebrating. And to hear him talk about my work and to explain DNA mixture deconvolution and what I am passionate about and what I focus on, was it truly just it just left such an imprint on my heart. I was like, oh my gosh, he does this. And oh my gosh, he knows exactly what I'm talking about.
01:06:37:08 - 01:06:55:10
Speaker
And oh my gosh, I must have explained it well enough to him for him to remember and then be able to explain it to other people. So, I yeah, I, I think that we're going to end here like that's, that's the moment to end on. But yeah. Yeah. Well good job Nicole's friend for listening. That's good. Yeah. Yeah.
01:06:55:10 - 01:06:56:21
Speaker
We need more friends like that.
01:06:56:21 - 01:06:58:21
Speaker
last major question, and that is just,
01:06:58:21 - 01:07:03:11
Speaker
you've got research going on. You got grants. Congratulations on those two. And,
01:07:03:11 - 01:07:11:22
Speaker
you know, just other things coming up. So, what is next? What is next for you? What's the next major milestones for you? Well, to be honest, right now it's an open road.
01:07:11:22 - 01:07:12:18
Speaker
So I am,
01:07:12:18 - 01:07:18:17
Speaker
going on sabbatical this upcoming summer for the next year. And I'm really going to dedicate
01:07:18:17 - 01:07:31:08
Speaker
most of that time to those two big grants. And then after that, I mean, you know, I life is a wild ride. So, I'm just hanging on and I'm just going with the flow. I really find that,
01:07:31:08 - 01:07:32:18
Speaker
you never know what's going to happen.
01:07:32:18 - 01:07:39:23
Speaker
Obviously, the pandemic for a lot of people changed our perspective, and I definitely think it did for me. I'm definitely trying to live more in the moment.
01:07:39:23 - 01:07:44:06
Speaker
not plan everything. Although, you know, schedule through 2024 is already full.
01:07:44:06 - 01:08:00:11
Speaker
but really just seeing where the community is evolving and adapting accordingly. Because as somebody who focuses on progressive research, I don't want to get too caught in my ways, in my interests, that I'm not responding to what the community actually needs.
01:08:00:11 - 01:08:07:10
Speaker
Because then at the end of these grants, I won't get more if I'm if I'm not moving in that direction. And so,
01:08:07:10 - 01:08:28:10
Speaker
I think my goal is to just keep expanding that network, hopefully start some new collaborations, go in some new areas of interest as they relate to either my areas or other people. Like, I love collaborating and just trying new things, and so kind of just going where the forensic wind takes me, I guess we'll see.
01:08:28:10 - 01:08:32:18
Speaker
I don't know, I don't want to lock anything down. Excellent. Well, look, I'm going to I'm going to bring up your,
01:08:32:18 - 01:08:45:20
Speaker
sites here. So, you got like Nicole, Nebraska comm. And there's also the University of Toronto, where people can find you. So, in case somebody wants to reach out to. You mean you've got all your research listed here, and there's a bunch of other, like, links and such to,
01:08:45:25 - 01:08:51:29
Speaker
just videos and things like that, and also on YouTube, like there's a ton of stuff that you got on YouTube, which is a great resource for everyone here as well.
01:08:51:29 - 01:08:54:13
Speaker
So, Nicole, thank you very, very much.
01:08:54:13 - 01:09:00:16
Speaker
great. Great, discussion, great information, and I really, really appreciate it. Yes. Thank you so much for having me. And,
01:09:00:16 - 01:09:03:27
Speaker
for anyone listening or who listens in the future that,
01:09:03:27 - 01:09:08:24
Speaker
website information won't go away. So please reach out if you have any other questions. Next time, do me a favor.
01:09:08:25 - 01:09:10:26
Speaker
Hang back when you get a chance. And,
01:09:10:26 - 01:09:12:25
Speaker
I'm looking forward to talking to you soon. Thank you.
01:09:12:25 - 01:09:16:01
Speaker
All right. So that does it for this episode, folks. Thank you so much.
01:09:16:01 - 01:09:20:17
Speaker
great information there. I learned a ton already. I learned about imputation and a lot of other,
01:09:20:17 - 01:09:22:11
Speaker
cool things.
01:09:22:14 - 01:09:26:28
Speaker
so, we will be back at some point in the near future. There's some travel coming up for me, so I'm,
01:09:26:28 - 01:09:27:21
Speaker
not going to be doing this,
01:09:27:21 - 01:09:31:25
Speaker
for another couple few weeks. We'll see what I can squeeze in when I can. But,
01:09:31:25 - 01:09:36:12
Speaker
again, thanks, everybody, for listening in. And I wish you all the very, very best.
01:09:36:13 - 01:09:38:24
Speaker
Have a happy Thursday, and we'll see you soon. Bye.